Article

Long-range PCR-based NGS applications to diagnose Mendelian retinal diseases

2020-12-02

Abstract excerpt

<h4>Background</h4> The purpose of this study was to develop a flexible, cost-efficient next-generation sequencing (NGS) protocol for genetic testing. <h4>Methods</h4> Long-range polymerase chain reaction (LR PCR) amplicons of up to 20 kb in size were designed to amplify entire genomic regions for a panel ( n =35) of loci associated with retinal diseases (RDs). Amplicons were pooled and sequenced by NGS. The analy...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 87cae643-44b5-537a-b72f-5ee0b0a9717d
DOI: 10.1101/2020.11.30.20234971

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long-range PCR-based NGS applications to diagnose Mendelian retinal diseasesDOI 10.1101/2020.11.30.20234971Read

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.Semantic proximity Read

Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencingSemantic proximity Read

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Semantic proximity Read

Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.Semantic proximity Read

Systematic assessment of the contribution of structural variants to inherited retinal diseasesSemantic proximity Read

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsSemantic proximity Read

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing.Semantic proximity Read

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Semantic proximity Read

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesSemantic proximity Read

The clinical implications of molecular monitoring and analyses of inherited retinal diseases.Semantic proximity Read

The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis.Semantic proximity Read

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencingSemantic proximity Read